Zobrazeno 1 - 10
of 790
pro vyhledávání: '"ATP1A3"'
Autor:
Jamir Pitton Rissardo, Nilofar Murtaza Vora, Yogendra Singh, Sweta Kishore, Ana Letícia Fornari Caprara
Publikováno v:
Rambam Maimonides Medical Journal, Vol 15, Iss 3, p e0015 (2024)
Alternating hemiplegia of childhood (AHC) is a complex neurodevelopmental disorder characterized by paroxysmal and transient events of unilateral or bilateral paresis, usually occurring before 18 months of age. Mutations in the ATP1A3 gene, mainly p.
Externí odkaz:
https://doaj.org/article/718b9f7f70ed432f81ff06d1d6fe2a43
Autor:
Dan-dan Ruan, Jing Zou, Li-sheng Liao, Ming-dong Ji, Ruo-li Wang, Jian-hui Zhang, Li Zhang, Mei-zhu Gao, Qian Chen, Hong-ping Yu, Wen Wei, Yun-fei Li, Hong Li, Fan Lin, Jie-wei Luo, Xin-fu Lin
Publikováno v:
Frontiers in Neuroscience, Vol 18 (2024)
IntroductionWe previously reported that ATP1A3 c.823G>C (p.Ala275Pro) mutant causes varying phenotypes of alternative hemiplegia of childhood and rapid-onset dystonia-parkinsonism in the same family. This study aims to investigate the function of ATP
Externí odkaz:
https://doaj.org/article/b8b9f5986ee64684bea9685de8309e9d
Autor:
Fumihiko Fujii, Hikaru Kanemasa, Sayaka Okuzono, Daiki Setoyama, Ryoji Taira, Kousuke Yonemoto, Yoshitomo Motomura, Hiroki Kato, Keiji Masuda, Takahiro A. Kato, Shouichi Ohga, Yasunari Sakai
Publikováno v:
Disease Models & Mechanisms, Vol 17, Iss 6 (2024)
Externí odkaz:
https://doaj.org/article/3472d26e58c74f6cb7b572ff8411a0fa
Autor:
Cara P. Ford, Rebecca O. Littlejohn, Ryan German, Blake Vuocolo, Jose Aceves, Liesbeth Vossaert, Nichole Owen, Michael Wangler, Carrie A. Schmid, The Texome Project
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 12, Pp n/a-n/a (2023)
Abstract Background Genomic medicine is revolutionizing the diagnosis of rare diseases, but the implementation has not benefited underrepresented populations to the same degree. Here, we report the case of a 7‐year‐old boy with hypotonia, global
Externí odkaz:
https://doaj.org/article/546c32499e404c419a93523af25faa20
Akademický článek
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Autor:
Weihua Zhang, Jiuwei Li, Xiuwei Zhuo, Ji Zhou, Weixing Feng, Shuai Gong, Xiaotun Ren, Changhong Ding, Tongli Han, Fang Fang
Publikováno v:
Pediatric Investigation, Vol 6, Iss 1, Pp 5-10 (2022)
ABSTRACT Importance The phenotypes of ATP1A3 gene mutations are diverse. Relapsing encephalopathy with cerebellar ataxia and fever‐induced paroxysmal weakness and encephalopathy (FIPWE) are considered non‐classical phenotypes caused by p.Arg756 m
Externí odkaz:
https://doaj.org/article/e5844d634c474755b736bae995ce32e6
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 17 (2023)
The ATP1A3 gene, which encodes the Na+/K+-ATPase α3 catalytic subunit, plays a crucial role in both physiological and pathological conditions in the brain, and mutations in this gene have been associated with a wide variety of neurological diseases
Externí odkaz:
https://doaj.org/article/83790fb2e35a450da6d5d24c0891e022
Autor:
Christopher T. Whitlow, Kyle M. Atcheson, Beverly M. Snively, Jared F. Cook, Jeongchul Kim, Ihtsham U. Haq, Kathleen J. Sweadner, Laurie J. Ozelius, Allison Brashear
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
PurposePrevious research showed discrete neuropathological changes associated with rapid-onset dystonia-parkinsonism (RDP) in brains from patients with an ATP1A3 variant, specifically in areas that mediate motor function. The purpose of this study wa
Externí odkaz:
https://doaj.org/article/2b75049934e940eea329d1b76bf026da
Publikováno v:
Обозрение психиатрии и медицинской психологии имени В.М. Бехтерева, Vol 55, Iss 4, Pp 15-35 (2021)
Antipsychotic-induced parkinsonism is an undesirable reaction from the extrapyramidal system that occurs against the background of taking antipsychotics (AP), more often in patients with schizophrenia. Antipsychotic-induced parkinsonism belongs to th
Externí odkaz:
https://doaj.org/article/fb2da91eb00c4ca09c7dbb2dffa4a719
Akademický článek
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